Search details
1.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Nature
; 607(7917): 97-103, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35255492
2.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32581362
3.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet
; 108(9): 1551-1557, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34329581
4.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet
; 101(6): 995-1005, 2017 Dec 07.
Article
in English
| MEDLINE | ID: mdl-29198722
5.
PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources.
BMC Bioinformatics
; 20(1): 159, 2019 Mar 28.
Article
in English
| MEDLINE | ID: mdl-30922213
6.
HGVA: the Human Genome Variation Archive.
Nucleic Acids Res
; 45(W1): W189-W194, 2017 07 03.
Article
in English
| MEDLINE | ID: mdl-28535294
7.
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Hum Mutat
; 39(1): 80-91, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28967191
8.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Article
in English
| MEDLINE | ID: mdl-26912466
9.
Seventy-five genetic loci influencing the human red blood cell.
Nature
; 492(7429): 369-75, 2012 Dec 20.
Article
in English
| MEDLINE | ID: mdl-23222517
10.
αIIbß3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.
Proc Natl Acad Sci U S A
; 112(15): E1898-907, 2015 Apr 14.
Article
in English
| MEDLINE | ID: mdl-25827233
11.
Re: Best et al., 'Unlocking the potential of the UK 100,000 Genomes Project - Lessons learned from analysis of the "Congenital malformations caused by ciliopathies" cohort'.
Am J Med Genet A
; 188(11): 3376-3377, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35861231
12.
Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.
Genome Res
; 23(7): 1130-41, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23570689
13.
Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice.
Blood
; 124(24): 3624-35, 2014 Dec 04.
Article
in English
| MEDLINE | ID: mdl-25258341
14.
Canonical Wnt signaling in megakaryocytes regulates proplatelet formation.
Blood
; 121(1): 188-96, 2013 Jan 03.
Article
in English
| MEDLINE | ID: mdl-23160460
15.
Transcription factor and chromatin features predict genes associated with eQTLs.
Nucleic Acids Res
; 41(3): 1450-63, 2013 Feb 01.
Article
in English
| MEDLINE | ID: mdl-23275551
16.
A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site.
Blood
; 120(24): 4859-68, 2012 Dec 06.
Article
in English
| MEDLINE | ID: mdl-22972982
17.
Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.
Transfusion
; 54(12): 3043-50, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-24947683
18.
Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.
PLoS Genet
; 7(6): e1002139, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21738486
19.
Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans.
PLoS Genet
; 7(12): e1002367, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22144904
20.
Multiple loci are associated with white blood cell phenotypes.
PLoS Genet
; 7(6): e1002113, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21738480